• Gene id: 190

Gene Summary

• Gene Symbol: NR0B1   Gene   UCSC   Ensembl
• Aliases: AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
• Gene name: nuclear receptor subfamily 0 group B member 1
• Alternate names: nuclear receptor subfamily 0 group B member 1, DSS-AHC critical region on the X chromosome protein 1, nuclear hormone receptor, nuclear receptor DAX-1, truncated nuclear receptor subfamily 0 group B member 1,
• Gene location: Xp21.2 (30309377: 30304421)     Exons: 2     NC_000023.11
• Gene summary(Entrez): This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antago
• OMIM: 300473

SNPs

rs5335

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147542688G>A
NC_000004.12   g.147542688G>C
NC_000004.11   g.148463840G>A
NC_000004.11   g.148463840G>C
NG_013343.1   g.66772G>A
NG_013343.1   g.66772G>C
NM_001957.4   c.*70G>A
NM_001957.4   c.*70G>C
NM_001957.3   c.*70G>A
NM_001957.3   c.*70G>C
NR_04595  

rs1801708

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147481217G>A
NC_000004.12   g.147481217G>C
NC_000004.11   g.148402369G>A
NC_000004.11   g.148402369G>C
NG_013343.1   g.5301G>A
NG_013343.1   g.5301G>C
NM_001957.4   c.-230G>A
NM_001957.4   c.-230G>C
NM_001957.3   c.-230G>A
NM_001957.3   c.-230G>C
NR_045  

Protein Summary

• Protein general information: P51843  
  • Name: Nuclear receptor subfamily 0 group B member 1 (DSS AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX 1)
  • Length: 470  
  • Mass: 51,718
• Sequence:

  MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCGKDHPR
  QGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLL
  TSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQA
  APEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA
  QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQAIKCFLSKCWSLNIST
  KEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFR
  PIIGTVSMDDMMLEMLCTKI

• Structural information:
  • Protein Domains: NR (205-469)
  • Interpro: IPR035500  IPR033544  IPR000536  IPR001723  IPR025900  
  • Prosite: PS51843
  • PDB: 4RWV
  • PDBsum: 4RWV
  • STRING: ENSP00000368253
• Other Databases: GeneCards:  NR0B1  Malacards:  NR0B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003714	transcription corepressor activity	IMP	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008104	protein localization	IDA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008406	gonad development	IMP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0021854	hypothalamus development	NAS	biological process
GO:0021983	pituitary gland development	NAS	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0030325	adrenal gland development	IMP	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0032448	DNA hairpin binding	IDA	molecular function
GO:0033144	negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0035258	steroid hormone receptor binding	IPI	molecular function
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042788	polysomal ribosome	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0050682	AF-2 domain binding	IPI	molecular function
GO:0060008	Sertoli cell differentiation	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0003714	transcription corepressor activity	IMP	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007530	sex determination	IEA	biological process
GO:0008104	protein localization	IDA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008406	gonad development	IMP	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0021854	hypothalamus development	NAS	biological process
GO:0021983	pituitary gland development	NAS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030325	adrenal gland development	IMP	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0032448	DNA hairpin binding	IDA	molecular function
GO:0033144	negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0035258	steroid hormone receptor binding	IPI	molecular function
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042788	polysomal ribosome	IEA	cellular component
GO:0042788	polysomal ribosome	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0050682	AF-2 domain binding	IPI	molecular function
GO:0060008	Sertoli cell differentiation	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IMP	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0008104	protein localization	IDA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008406	gonad development	IMP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0021854	hypothalamus development	NAS	biological process
GO:0021983	pituitary gland development	NAS	biological process
GO:0030325	adrenal gland development	IMP	biological process
GO:0032448	DNA hairpin binding	IDA	molecular function
GO:0033144	negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	biological process
GO:0035258	steroid hormone receptor binding	IPI	molecular function
GO:0042788	polysomal ribosome	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0050682	AF-2 domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04927	Cortisol synthesis and secretion

Diseases

Associated diseases	References
Glycerol kinase deficiency	KEGG: H00552
Platelet aggregation	GAD: 17903294
Congenital adrenal hypoplasia	INFBASE: 15884018
X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism	INFBASE: 25003377
Azoospermia	MIK: 26207377
Azoospermia	MIK: 16275267
Hypogonadotropic hypogonadism	MIK: 27117364
Spermatogenesis defects	MIK: 27117364
Primary spermatogenic failure	MIK: 21775412
Oligozoospermia	MIK: 23384712
Oligozoospermia	MIK: 23384712
Pubertal delay	MIK: 10599708
Male factor infertility	MIK: 21227944
Congenital adrenal hypoplasia	INFBASE: 18202527
Hypogonadotropic hypogonadism	MIK: 19773398
Adrenal insufficiency	INFBASE: 18038713
Hypopituitarism	KEGG: H01700
Pfeiffer syndrome	KEGG: H01756
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypogonadotropic hypogonadism	MIK: 18038713
Azoospermia	MIK: 26207377
Congenital adrenal hypoplasia	MIK: 23272655
May influence the development of spermatogenic cells in response to steroid and pituitary hormones	MIK: 8961266
Oligospermia	MIK: 23384712
Primary spermatogenic defects	MIK: 21775412
X-linked adrenal hypoplasia congenita	MIK: 16645015
X-linked adrenal hypoplasia congenita (AHC) associated with hypogonadotropic hypogonadism	MIK: 19129717

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18038713	Adrenal hypoplasia congenita (AHC), adrenal insufficiency, hypogonadotropic hypogonadism	c.1256 delA		2 affected members: one with neonatal adrenal insufficiency, and a sibling with adrenal hypoplasia and sudden death at 3 years old	Male infertility
19773398	X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism			4 males with hypogonadotropic hypogonadism (AHCH)	Male infertility, Female infertility
18202527	X-linked adrenalhypoplasia congenita (AHC), hypogonadotropic hypogonadism (HHG)	V269D, L271X, L278R, and Q395X	Japanes e	4 patients with AHC and HHG caused by the mutations of the DAX-1 gene	Male infertility
23295288	Adrenal hypoplasia congenita, hypogonadotropichypogonadism	(p.Asp372del) DAX1		205 (4 adrenal failure, 200 controls)	Male infertility, Female infertility	DAX1 NR0B1
22761912	Adrenal hypoplasiacongenita (AHC)				Male infertility
23018754	Congenital adrenal hypoplasia	NR0B1 variants in the 4 AHC pedigrees: pedigree 1 (United Arab Emirates), c.1130A>G predicting p.(Glu377Gly); pedigree 2 (English Caucasian), c.327C>A predicting p.(Cys109*); pedigree 3 (Oman), a 6-bp deletion of a direct repeat, c.857_862delTGGTGC predic	United Arab Em irates, Englis h Cauca sian, O man, En glish C aucasia n	4 patients	Male infertility
21270512	X-linked adrenal hypoplasia congenita	DAX1 gene revealed 2 novel mutations c.572-575 dupGGGC, p.Thr193Gly,fs,205X and c.773- 774 dupCC, p.Ser259Pro,fs,264X in exon 1	Chinese	2 X-linked adrenal hypoplasia congenita	Male infertility, Female infertility
21227944	X-linked congenital adrenal hypoplasia (AHC)	DAX1 mutation (c.1210C>T)		1 X-linked congenital adrenal hypoplasia (AHC)	Male infertility
15884018	Congenital adrenal hypoplasia and hypogonadotropichypogonadism	DAX1 gene of the propositus showed deletion of nucleotides AAT in exon 2, resulting in the loss of the Asn430			Male infertility
10599709	X-linked adrenal hypoplasia congenita			5 (2 patient, 3 heterozygous family number )	Male infertility, Female infertility
10599708	Hypogonadotropic hypogonadism or pubertal delay	T114C, G498A		106 (85 (80 men and 5 women) with sporadic HH or constitutional delay of puberty, patients with 21 kindreds with familial forms of these disorders)	Male infertility, Female infertility
10522996	Adrenal hypoplasia congenita, hypogonadotropic hypogonadism (HH)	C to A transversion at nucleotide 825 in the DAX-1 gene, resulting in a stop codon at position 197		4 (2 adrenal hypoplasia congenita and HH, 2 carrier mothers)	Male infertility, Female infertility
7609262	X-linked adrenal hypoplasia congenita				Male infertility
10522996	Adrenal hypoplasia congenita and hypogonadotropic hypogonadism (HH)	C to A transversion at nucleotide 825 in the DAX-1 gene, resulting in a stop codon at position 197		1 male patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism (HH)	Male infertility
19893922	Adrenal hypoplasia congenita	DAX1 (insertion of an adenine base (c1382-1383 A ins), which lead to a pMet461Asp substitution)		2 with adrenal hypoplasia congenita	Male infertiltiy, Female infertility	DAX1/NR0B1A
19893922	Adrenal hypoplasia congenita	DAX1 (insertion of an adenine base (c1382-1383 A ins), which lead to a pMet461Asp substitution)		2 with adrenal hypoplasia congenita	Male infertiltiy, Female infertility	DAX1/NR0B1A
8855822	X-linkedadrenal hypoplasia congenita	Q395X, nonsense mutation at position 91 (Y91X), 2-base deletion (AT) at nucleotides 1610 and 1611 and a 1-base insertion (G) resulting in a premature stop codon at position 462 (1610-1611 del AT ins G), nonsense mutation at position 271 (Y271X), 1-base		6 patients with AHC	Male infertility, Female infertility
27117364	Spermatogenesis, hypogonadotropichypogonadism			24 patients with adrenal hypoplasia congenita	Male infertility
27035099	X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism	c.195_207delinsTG	Chinese		Male infertility
15860922	X-linked adrenal hypoplasia congenita	1156_1157delCT, W105X , deletions of the entire IL1RAPL, GK genes and the C-terminal region of DMD gene	Korean	3 (Patient 1 is a 6-year-old boy who presented with a salt-losing adrenal crisis in the neonatal period. Patient 2 is a 3-year-old boy who manifested aspiration pneumonia and adrenal insufficiency at the age of 1 month. Patient 3 is a 7-year-old boy who d	Male infertility
7990958	X-linked adrenal hypoplasia congenita, hypogonadotropichypogonadism			14 patients with AHC	Male infertility
25003377	X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism	NR0B1 mutation (c.1177_1180delGGCC, p.Gly393Cysfs*4)		1 X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism	Male infertility
19129717	X-linked adrenal hypoplasia congenita (AHC) associated with hypogonadotropic hypogonadism	(IVS1 + 1G>C)		1 with X-linked adrenal hypoplasia congenita (AHC) associated with hypogonadotropic hypogonadism	Male infertility
26207377	Azoospermia	DAX-1 (p. V385L)		1485 (776 patients diagnosed with secretory azoospermia, 709 proven fertile men)	Male infertility
23384712	Oligospermia				Male infertility
21775412	Primary spermatogenic failure			98 (65 men with primary spermatogenic failure [complete Sertoli cell only syndrome (SCOS), focal SCOS, maturation arrest and mixed atrophy], 33 controls with normal spermatogenesis)	Male infertility	DAX-1
21775412	Primary spermatogenic failure			98 (65 men with primary spermatogenic failure [complete Sertoli cell only syndrome (SCOS), focal SCOS, maturation arrest and mixed atrophy], 33 controls with normal spermatogenesis)	Male infertility	DAX-1A
16275267	Idiopathic azoospermia			15 testicular biopsy samples from men with idiopathic nonobstructive azoospermia	Male infertility	DAX1
8961266	May influence the development of spermatogenic cells in response to steroid and pituitary hormones				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
23272655	Congenital adrenal hypoplasia		Egyptia n		Male infertility
16645015	X-linked adrenal hypoplasia congenita	Promoter (-240 bp) region of DAX1 deletion			Male infertility